Clinical and laboratory features of Macedonian children with OCRL mutations

Pediatric Nephrology

Volumn 26, Issue 4, 2011, Pages 557-562

  Tasic, Velibor ^a   Lozanovski, Vladimir J ^a,b   Korneti, Petar ^c   Ristoska Bojkovska, Nadica ^a   Sabolic Avramovska, Vesna ^a   Gucev, Zoran ^a   Ludwig, Michael ^d  

^a UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c SS CYRIL AND METHODIUS UNIVERSITY OF SKOPJE   (Macedonia)

^d UNIVERSITY OF BONN   (Germany)

Author keywords

Dent 2 disease; Hypercalciuria; Low molecular weight proteinuria; OCRL; Oculocerebrorenal syndrome

Indexed keywords

CREATINE KINASE; LACTATE DEHYDROGENASE; SUCCIMER TC 99M;

AMINO ACID SEQUENCE; ARTICLE; CLINICAL FEATURE; DENT DISEASE; DISEASE ASSOCIATION; EYE EXAMINATION; FANCONI ANEMIA; GENE; GENE MUTATION; HUMAN; HYPERCALCIURIA; KIDNEY CALCIFICATION; KIDNEY TUBULE FUNCTION; LOW MOLECULAR WEIGHT PROTEINURIA; LOWE SYNDROME; MACEDONIA (REPUBLIC); MUTATIONAL ANALYSIS; NEPHROLITHIASIS; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; OCRL GENE; PRIORITY JOURNAL; PROTEINURIA;

CHILD; DENT DISEASE; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; MACEDONIA (REPUBLIC); OCULOCEREBRORENAL SYNDROME; PHOSPHORIC MONOESTER HYDROLASES;

EID: 79954440529     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-010-1758-9     Document Type: Article

References (28)

1. CU Lowe M Terrey EA Maclachan 1952 Organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: A clinical entity Am J Dis Child 83 164 184 1:CAS:528:DyaG38XjtlelsQ%3D%3D
2. SJ Kruger ME Wilson Jr AK Hutchinson MM Peterseim LR Bartholomew RA Saunders 2003 Cataracts and glaucoma in patients with oculocerebrorenal syndrome Arch Ophthalmol 121 1234 1237 10.1001/archopht.121.9.1234 12963605 (Pubitemid 37128400)
3. W Röschinger AC Muntau G Rudolph AA Roscher S Kammerer 2000 Carrier assessment in families with Lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination Mol Genet Metab 69 213 222 10.1006/mgme.1999.2955 10767176 (Pubitemid 30241687)
4. LR Charnas I Bernardini D Rader JM Hoeg WA Gahl 1991 Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function N Engl J Med 324 1318 1325 1:CAS:528:DyaK3MXlsFKnt7Y%3D 10.1056/NEJM199105093241904 2017228
5. L Schramm A Gal J Zimmermann KO Netzer E Heidbreder K Lopau H Gröne C Wanner 2004 Advanced renal insufficiency in a 34-year-old man with Lowe syndrome Am J Kidney Dis 43 538 543 10.1053/j.ajkd.2003.11.013 14981612 (Pubitemid 38298213)
6. L Tricot Y Yahiaoui L Teixeira L Benabdallah E Rothschild JP Juquel V Satre JP Grünfeld D Chauveau 2003 End-stage renal failure in Lowe syndrome Nephrol Dial Transplant 18 1923 1925 10.1093/ndt/gfg294 12937245 (Pubitemid 37098568)
7. R Choudhury A Diao F Zhang E Eisenberg A Saint-Pol C Williams A Konstantakopoulos J Lucocq L Johannes C Rabouille LE Greene M Lowe 2005 Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network Mol Biol Cell 16 3467 3479 1:CAS:528:DC%2BD2MXosVCgurg%3D 10.1091/mbc.E05-02-0120 15917292 (Pubitemid 41077061)
8. KS Erdmann Y Mao HJ McCrea R Zoncu S Lee S Paradise J Modregger D Biemesderfer D Toomre P De Camilli 2007 A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway Dev Cell 13 377 390 1:CAS:528:DC%2BD2sXhtVels73O 10.1016/j.devcel.2007.08.004 17765681 (Pubitemid 47321603)
9. RR Hoopes Jr AE Shrimpton SJ Knohl P Hueber B Hoppe J Matyus A Simckes V Tasic B Toenshoff SF Suchy RL Nussbaum SJ Scheinman 2005 Dent disease with mutations in OCRL1 Am J Hum Genet 76 260 267 1:CAS:528:DC%2BD2MXpsFejuw%3D%3D 10.1086/427887 15627218 (Pubitemid 40129552)
10. B Utsch A Bökenkamp MR Benz N Besbas J Dötsch I Franke S Fründ F Gok B Hoppe S Karle E Kuwertz-Bröking G Laube M Neb M Nuutinen F Ozaltin W Rascher T Ring V Tasic JA van Wijk M Ludwig 2006 Novel OCRL1 mutations in patients with the phenotype of Dent disease Am J Kidney Dis 48 942 e1 14 17162149
11. V Matos G van Melle O Boulat M Markert C Bachmann JP Guignard 1997 Urinary phosphate/creatinine, calcium/creatinine, and magnesium/creatinine ratios in a healthy pediatric population J Pediatr 131 252 257 1:CAS:528:DyaK2sXmtVCgu7o%3D 10.1016/S0022-3476(97)70162-8 9290612 (Pubitemid 27495246)
12. D Böckenhauer A Bökenkamp W van't Hoff E Levtchenko JE Kist-van Holthe V Tasic M Ludwig 2008 Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction Clin J Am Soc Nephrol 3 1430 1436 10.2215/CJN.00520108 18480301
13. A Bökenkamp D Böckenhauer HI Cheong B Hoppe V Tasic R Unwin M Ludwig 2009 Dent-2 disease: a mild variant of Lowe syndrome J Pediatr 155 94 99 10.1016/j.jpeds.2009.01.049 19559295
14. T Sekine K Nozu R Iyengar XJ Fu M Matsuo R Tanaka K Iijima E Matsui Y Harita J Inatomi T Igarashi 2007 OCRL1 mutations in patients with Dent disease phenotype in Japan Pediatr Nephrol 22 975 980 10.1007/s00467-007-0454-x 17384968 (Pubitemid 46881915)
15. HY Cho BH Lee HJ Choi IS Ha Y Choi HI Cheong 2008 Renal manifestations of Dent disease and Lowe syndrome Pediatr Nephrol 23 243 249 10.1007/s00467-007- 0686-9 18038239
16. AE Shrimpton RR Hoopes Jr SJ Knohl P Hueber AA Reed PT Christie T Igarashi P Lee A Lehman C White DV Milford MR Sanchez R Unwin OM Wrong RV Thakker SJ Scheinman 2009 OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability Nephron Physiol 112 p27 36 1:CAS:528: DC%2BD1MXmsFaltbs%3D 10.1159/000213506 19390221
17. E Tosetto M Addis G Caridi C Meloni F Emma G Vergine G Stringini T Papalia G Barbano GM Ghiggeri L Ruggeri N Miglietti A D'Angelo MA Melis F Anglani 2009 Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations Pediatr Nephrol 24 1967 1973 10.1007/s00467-009-1228-4 19582483
18. K Kaneko M Hasui A Hata D Hata K Nozu 2010 Focal segmental glomerulosclerosis in a boy with Dent-2 disease Pediatr Nephrol 25 781 782 10.1007/s00467-009-1362-z 19902262
19. M Ludwig B Utsch LA Monnens 2006 Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease Nephrol Dial Transplant 21 2708 2717 10.1093/ndt/gfl346 16861240 (Pubitemid 44542221)
20. Y Frishberg D Dinour R Belostotsky R Becker-Cohen C Rinat S Feinstein P Navon-Elkan E Ben-Shalom 2009 Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg? Pediatr Nephrol 24 2369 2373 10.1007/s00467-009-1299-2 19806368
21. S Suzuki J Suzuki K Kume K Yoshida H Suyama Y Kawasaki R Nozawa H Suzuki T Fujiki S Kamiyama A Suzuki 1999 Poor renal accumulation of 99mTc-DMSA in idiopathic tubular proteinuria Nephron 81 49 54 1:CAS:528:DyaK1MXlsVGhsA%3D%3D 10.1159/000045245 9884419 (Pubitemid 29041716)
22. BH Lee SH Lee HJ Choi HG Kang SW Oh DS Lee IS Ha Y Choi HI Cheong 2009 Decreased renal uptake of (99m)Tc-DMSA in patients with tubular proteinuria Pediatr Nephrol 24 2211 2216 10.1007/s00467-009-1238-2 19579036
23. WH van Luÿk GJ Ensing DA Piers 1983 Low renal uptake of 99mTc-DMSA in patients with proximal tubular dysfunction Eur J Nucl Med 8 404 405 10.1007/BF00253217 6313371 (Pubitemid 13017524)
24. MJ de Lange DA Piers JG Kosterink WH van Luijk S Meijer D de Zeeuw GK van der Hem 1989 Renal handling of technetium-99m DMSA: evidence for glomerular filtration and peritubular uptake J Nucl Med 30 1219 1223 2544699 (Pubitemid 19175982)
25. SE Kim JT Cho DS Lee JK Chung S Kim MC Lee JS Lee CS Koh 1995 Poor renal uptake of Tc-99m DMSA and Tc-99m MDP in a patient with Fanconi syndrome and near normal glomerular filtration rate Clin Nucl Med 20 215 219 1:STN:280: DyaK2M3mvFertg%3D%3D 10.1097/00003072-199503000-00005 7750213
26. M Caglar R Topaloǧlu 2002 Reduced Tc-99m DMSA uptake in a patient with renal tubular acidosis: effect of acid-base imbalance Ann Nucl Med 16 499 501 10.1007/BF02988651 12508844 (Pubitemid 36013951)
27. H Hecht J Ohlsson SA Starck 1996 Poor renal uptake of 99mtechnetium-dimercaptosuccinic acid and near-normal 99mtechnetium- mercaptoacetyltriglycine renogram in nephronophthisis Pediatr Nephrol 10 167 170 1:STN:280:DyaK283mslCltA%3D%3D 8703703
28. PA Jänne SF Suchy D Bernard M MacDonald J Crawley A Grinberg A Wynshaw-Boris H Westphal RL Nussbaum 1998 Functional overlap between murine Inpp 5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice J Clin Invest 101 2042 2053 10.1172/JCI2414 9593760 (Pubitemid 28244088)